Canonical Allele Identifier: CA62595025
Gene: COL5A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 529243
ClinVar RCV Id: RCV001571537 RCV002233962 RCV002438677
dbSNP Id: rs930378570
gnomAD v2: 2-189915317-A-T
gnomAD v3: 2-189050591-A-T
gnomAD v4: 2-189050591-A-T
MyVariant Identifiers: chr2:g.189915317A>T (hg19) chr2:g.189050591A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189050591A>T , CM000664.2:g.189050591A>T GRCh38
NC_000002.11:g.189915317A>T , CM000664.1:g.189915317A>T GRCh37
NC_000002.10:g.189623562A>T NCBI36
NG_011799.1:g.134289T>A
NG_011799.2:g.134289T>A
NG_011799.3:g.179711T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374866.9:c.3017T>A MANE Select ENSP00000364000.3:p.Met1006Lys
ENST00000374866.7:c.3017T>A ENSP00000364000.3:p.Met1006Lys
ENST00000618828.1:c.1856T>A ENSP00000482184.1:p.Met619Lys
NM_000393.3:c.3017T>A NP_000384.2:p.Met1006Lys
XM_011510573.1:c.2879T>A XP_011508875.1:p.Met960Lys
NM_000393.4:c.3017T>A NP_000384.2:p.Met1006Lys
XM_011510573.3:c.2879T>A XP_011508875.1:p.Met960Lys
NM_000393.5:c.3017T>A MANE Select NP_000384.2:p.Met1006Lys
Search 100 bp 5'
Search 100 bp 3'